Variants
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rs1057516054

  • Likely pathogenic

Your Genotype

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Description

Reference Allele

A


Alternative Allele

C

Chromosome

20


Location

10405626


Variant Type

SNP

Genes

ClinVar

Name

NM_170784.3(MKKS):c.1334T>G (p.Leu445Ter)


Allele

C


Clinical Significance

Likely pathogenic

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